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Blepharo-cheilo-dontic (BCD) syndrome: case report
Akihiko Iida1, Shota Narai, Ritsuo Takagi
1Division of Oral and Maxillofacial Surgery, Niigata University Graduate School of Medical and Dental Sciences, 2-5274 Gakkocho-dori, Niigata 951-8514, Japan. iida@dent.niigata-u.ac.jp
Summary
This case report details blepharo-cheilo-dontic (BCD) syndrome in a neonate, highlighting typical symptoms and recommending an active treatment plan for this rare genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- Blepharo-cheilo-dontic (BCD) syndrome is a rare congenital disorder.
- It is characterized by a distinct set of craniofacial anomalies.
Observation:
- A 14-day-old male infant presented with sparse, curly scalp hair.
- Observed anomalies included a suspected cranial dermoid cyst, a nevus on the left hand, euryblepharon with ectropion, distichiasis, bilateral cleft lip and palate, severe oligodontia, and conical teeth.
Findings:
- The patient exhibited all hallmark clinical features of blepharo-cheilo-dontic (BCD) syndrome.
- Despite the anomalies, the infant's growth and development were approximately normal, with no fatal complications.
Implications:
- Early diagnosis and intervention are crucial for managing BCD syndrome.
- A comprehensive and proactive treatment strategy is recommended for affected individuals to optimize outcomes.